Preimplantation Genetic Diagnosis for CMT

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Good Morning ers,

This is a research article I wrote for CMTWORLD back in 2004. The

procedure may be available now for more types of CMT. And just to add

my own experience to the genetic testing issue lol, one more time, in

my childbearing years, I considered every angle to becoming pregnant

and possibly having a child with CMT. Since I was once a child with

CMT, I know all to well that experience and a certain " hell " . Even

though there doesn't appear to be any CMT in my family - even though

the gene has evolved in humans for 6-7 million years - and knowing

that 'second generation' CMT can be more severe, those 50/50

statistics of inheritance just weren't good enough for me. At that

time, the basic DNA test for CMT was not available, nor was pre-

implantation, so long story short, I chose not to have children. I do

not regret this one bit. OK, now read my old research on pre-

implantation. You also might want to search our Archives for personal

posts of people who have gone through the procedure with success.

Preimplantation Genetic Diagnosis for CMT

By Gretchen Glick February 2004

At last, CMT-free children!

Preimplantation Genetic Diagnosis for CMT Types 1A, 1B, 2E and X

Reproductive genetics now offers preimplantation and preconception

genetics diagnosis to families with confirmed CMT 1A, 1B, 2E and X.

This procedure offers the opportunity for producing children without

passing along the responsible CMT gene.

Preimplantation Genetic Diagnosis (PGD or PID) offers a new method of

in vitro fertilization and conception by performing genetic diagnosis

prior to fertilization or implantation. In this procedure, the CMT

gene can be extracted from the CMT parent(s) thus preventing the

transmission of the CMT gene and resulting in CMT-free children.

Eggs are taken from a woman and united with a man's sperm to first

obtain complete cells (zygote). Then the zygote is stimulated to

divide 3 times to have 8 cells from each. One cell is removed and DNA

is examined to search for the genetic mutation responsible for CMT in

one of the parents (who must know their specific CMT type). Then the

mini-embryos without the mutation are implanted into the woman's

uterus hoping that one will develop into a fetus.

In July 2003, the Center for Reproductive Medicine in Brussels

published their research findings on CMT 1A and PGD. Five couples

were involved in thirteen clinical cycles, resulting in seven embryo

transfers. Three couples produced one CMT-free child each.

Expenses incurred for this procedure vary, but can be in the range of

$7,000 – 15,000 (usfunds). PGD is also done in the UK, Australia,

Italy, Tokyo, Kiev, Larnaca (in Cyprus), St. sburg, and Russia.

Reproductive Medical Centers in the United States working with PGD

couples include those in Chicago, San Francisco, Los Angeles and

Tampa.

For further information contact your neurologist or genetic counselor.

l

Reproductive genetics now offers preimplantation and preconception

genetics diagnosis to families with confirmed CMT 1A, 1B, 2E and X.

This procedure offers the opportunity for producing children without

passing along the responsible CMT gene.

Preimplantation Genetic Diagnosis (PGD or PID) offers a new method of

in vitro fertilization and conception by performing genetic diagnosis

prior to fertilization or implantation. In this procedure, the CMT

gene can be extracted from the CMT parent(s) thus preventing the

transmission of the CMT gene and resulting in CMT-free children.

Eggs are taken from a woman and united with a man's sperm to first

obtain complete cells (zygote). Then the zygote is stimulated to

divide 3 times to have 8 cells from each. One cell is removed and DNA

is examined to search for the genetic mutation responsible for CMT in

one of the parents (who must know their specific CMT type). Then the

mini-embryos without the mutation are implanted into the woman's

uterus hoping that one will develop into a fetus.

In July 2003, the Center for Reproductive Medicine in Brussels

published their research findings on CMT 1A and PGD. Five couples

were involved in thirteen clinical cycles, resulting in seven embryo

transfers. Three couples produced one CMT-free child each.

Expenses incurred for this procedure vary, but can be in the range of

$7,000 – 15,000 (usfunds). PGD is also done in the UK, Australia,

Italy, Tokyo, Kiev, Larnaca (in Cyprus), St. sburg, and Russia.

Reproductive Medical Centers in the United States working with PGD

couples include those in Chicago, San Francisco, Los Angeles and

Tampa.

For further information contact your neurologist or genetic counselor.